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What is neurofibromatosis?

JAMIE TALAN | NEWSDAY STAFF WRITER

5:26 PM EDT, October 23, 2006

Neurofibromatosis is not a rare disease. In fact, one in 3,000 people is born with a gene mutation linked with it. Two-thirds of these people will have nothing more than a few skin discolorations -- freckles in the iris, armpit or groin. Others will have tumors growing inside or out, and in many stages of severity. The disfiguring tumors that crowd Hunter's face and neck are uncommon.

Unlike malignant cancers, neurofibromas are benign tumors, but they can grow uncontrollably and destroy tissue and organs in their path.

Surgery has always been the treatment of choice, but that's only because doctors have very little else to offer, said Dr. David Gutmann, director of the Neurofibromatosis Center at Washington University School of Medicine in St. Louis, who helped identify the NF-1 gene.

Though neurofibromatosis gained attention from David Lynch's portrayal of John Merrick in "The Elephant Man," scientists say he may have had a rare disease called Proteus syndrome. It causes abnormal growth of bones, skin and other systems but does not involve the NF gene mutations.